public void ReadItems_EndToEnd()
{
var expectedStrings = new[] { "Huey", "Duey", "Louie" };
string[] observedStrings;
using (var ms = new MemoryStream())
{
// ReSharper disable AccessToDisposedClosure
using (var writer = new ExtendedBinaryWriter(ms, Encoding.UTF8, true))
{
TranscriptCacheWriter.WriteItems(writer, expectedStrings, x => writer.WriteOptAscii(x));
}
ms.Position = 0;
using (var reader = new ExtendedBinaryReader(ms))
{
observedStrings = TranscriptCacheReader.ReadItems(reader, () => reader.ReadAsciiString());
}
// ReSharper restore AccessToDisposedClosure
}
Assert.NotNull(observedStrings);
Assert.Equal(expectedStrings, observedStrings);
}
public void TranscriptCacheReader_EndToEnd()
{
TranscriptCacheData observedCache;
using (var ms = new MemoryStream())
{
using (var writer = new TranscriptCacheWriter(ms, _expectedHeader, true))
{
writer.Write(_expectedCacheData);
}
ms.Position = 0;
using (var reader = new TranscriptCacheReader(ms))
{
observedCache = reader.Read(_refIndexToChromosome);
}
}
Assert.NotNull(observedCache);
Assert.Equal(_expectedCacheData.PeptideSeqs, observedCache.PeptideSeqs);
CheckChromosomeIntervals(_expectedCacheData.Genes, observedCache.Genes);
CheckIntervalArrays(_expectedCacheData.RegulatoryRegionIntervalArrays, observedCache.RegulatoryRegionIntervalArrays);
CheckIntervalArrays(_expectedCacheData.TranscriptIntervalArrays, observedCache.TranscriptIntervalArrays);
CheckIntervals(_expectedCacheData.TranscriptRegions, observedCache.TranscriptRegions);
CheckIntervals(_expectedCacheData.Mirnas, observedCache.Mirnas);
}
private static ExitCodes ProgramExecution()
{
var referenceProvider = new ReferenceSequenceProvider(FileUtilities.GetReadStream(_compressedReference));
var version = DataSourceVersionReader.GetSourceVersion(_inputFile + ".version");
string outFileName = $"{version.Name}_{version.Version}";
TranscriptCacheData transcriptData;
using (var transcriptCacheReader = new TranscriptCacheReader(FileUtilities.GetReadStream(CacheConstants.TranscriptPath(_transcriptCachePrefix))))
{
transcriptData = transcriptCacheReader.Read(referenceProvider.RefIndexToChromosome);
}
var(entrezToHgnc, ensemblToHgnc) = PrimateAiUtilities.GetIdToSymbols(transcriptData);
using (var primateAiParser = new PrimateAiParser(GZipUtilities.GetAppropriateReadStream(_inputFile), referenceProvider, entrezToHgnc, ensemblToHgnc))
using (var nsaStream = FileUtilities.GetCreateStream(Path.Combine(_outputDirectory, outFileName + SaCommon.SaFileSuffix)))
using (var indexStream = FileUtilities.GetCreateStream(Path.Combine(_outputDirectory, outFileName + SaCommon.SaFileSuffix + SaCommon.IndexSufix)))
using (var nsaWriter = new NsaWriter(nsaStream, indexStream, version, referenceProvider, SaCommon.PrimateAiTag, true, true, SaCommon.SchemaVersion, false))
{
nsaWriter.Write(primateAiParser.GetItems());
}
return(ExitCodes.Success);
}
private static TranscriptCache InitiateCache(Stream stream,
IDictionary <ushort, IChromosome> chromosomeIndexDictionary, GenomeAssembly genomeAssembly, ushort numRefSeq)
{
TranscriptCache cache;
using (var reader = new TranscriptCacheReader(stream, genomeAssembly, numRefSeq)) cache = reader.Read(chromosomeIndexDictionary);
return(cache);
}
public static IntervalArray <ITranscript>[] ReadCache(FileStream fileStream, IDictionary <ushort, IChromosome> refIndexToChromosome)
{
IntervalArray <ITranscript>[] transcriptIntervalArrays;
using (var reader = new TranscriptCacheReader(fileStream))
{
transcriptIntervalArrays = reader.Read(refIndexToChromosome).TranscriptIntervalArrays;
}
return(transcriptIntervalArrays);
}
public void CheckGuard_InvalidGuard()
{
Assert.Throws <InvalidDataException>(delegate
{
using (var ms = new MemoryStream())
{
using (var writer = new ExtendedBinaryWriter(ms, Encoding.UTF8, true)) writer.Write(7);
ms.Position = 0;
using (var reader = new ExtendedBinaryReader(ms)) TranscriptCacheReader.CheckGuard(reader);
}
});
}
public void GetSpliceIntervals_standard()
{
using (var transcriptCacheReader = new TranscriptCacheReader(GetCacheStream()))
{
var seqProvider = GetCacheSequenceProvider();
var transcriptData = transcriptCacheReader.Read(seqProvider.RefIndexToChromosome);
var spliceIntervals = SpliceUtilities.GetSpliceIntervals(seqProvider, transcriptData);
Assert.Single(spliceIntervals);
//given 2 exons, there should be 2 splice intervals
Assert.Equal(2, spliceIntervals[2].Array.Length);
}
}
public static TranscriptCacheData GetCache(string cachePath,
IDictionary <ushort, IChromosome> refIndexToChromosome)
{
if (!File.Exists(cachePath))
{
throw new FileNotFoundException($"Could not find {cachePath}");
}
TranscriptCacheData cache;
using (var reader = new TranscriptCacheReader(FileUtilities.GetReadStream(cachePath))) cache = reader.Read(refIndexToChromosome);
return(cache);
}
private static (TranscriptCache cache, ushort vepVersion) InitiateCache(Stream stream, IDictionary <ushort, IChromosome> refIndexToChromosome, GenomeAssembly refGenomeAssembly)
{
TranscriptCache cache;
ushort vepVersion;
using (var reader = new TranscriptCacheReader(stream))
{
var customHeader = reader.Header.CustomHeader as TranscriptCacheCustomHeader;
vepVersion = customHeader?.VepVersion ?? 0;
CheckHeaderVersion(reader.Header, refGenomeAssembly);
cache = reader.Read(refIndexToChromosome).GetCache();
}
return(cache, vepVersion);
}
private static (TranscriptCache Cache, IntervalArray <ITranscript>[] TranscriptIntervalArrays, ushort VepVersion) InitiateCache(Stream stream,
IDictionary <ushort, IChromosome> refIndexToChromosome, GenomeAssembly refAssembly)
{
TranscriptCache cache;
ushort vepVersion;
TranscriptCacheData cacheData;
using (var reader = new TranscriptCacheReader(stream))
{
vepVersion = reader.Header.Custom.VepVersion;
CheckHeaderVersion(reader.Header, refAssembly);
cacheData = reader.Read(refIndexToChromosome);
cache = cacheData.GetCache();
}
return(cache, cacheData.TranscriptIntervalArrays, vepVersion);
}
private static (TranscriptCacheData Cache, TranscriptCacheData Cache2) LoadTranscriptCaches(ILogger logger,
string transcriptPath, string transcriptPath2, IDictionary <ushort, IChromosome> refIndexToChromosome)
{
TranscriptCacheData cache;
TranscriptCacheData cache2;
logger.Write("- loading transcript caches... ");
using (var transcriptReader = new TranscriptCacheReader(FileUtilities.GetReadStream(transcriptPath)))
using (var transcriptReader2 = new TranscriptCacheReader(FileUtilities.GetReadStream(transcriptPath2)))
{
cache = transcriptReader.Read(refIndexToChromosome);
cache2 = transcriptReader2.Read(refIndexToChromosome);
}
logger.WriteLine("finished.");
return(cache, cache2);
}
public static DataBundle GetDataBundle(string referencePath, string cachePrefix)
{
var sequenceReader = new CompressedSequenceReader(FileUtilities.GetReadStream(referencePath));
var siftReader = new PredictionCacheReader(FileUtilities.GetReadStream(CacheConstants.SiftPath(cachePrefix)), PredictionCacheReader.SiftDescriptions);
var polyPhenReader = new PredictionCacheReader(FileUtilities.GetReadStream(CacheConstants.PolyPhenPath(cachePrefix)), PredictionCacheReader.PolyphenDescriptions);
VC.TranscriptCacheData cacheData;
VC.TranscriptCache cache;
Source source;
using (var transcriptReader = new TranscriptCacheReader(FileUtilities.GetReadStream(CacheConstants.TranscriptPath(cachePrefix))))
{
cacheData = transcriptReader.Read(sequenceReader.RefIndexToChromosome);
cache = cacheData.GetCache();
source = transcriptReader.Header.Source;
}
return(new DataBundle(sequenceReader, siftReader, polyPhenReader, cacheData, cache, source));
}
private static ExitCodes ProgramExecution()
{
var referenceProvider = new ReferenceSequenceProvider(FileUtilities.GetReadStream(_compressedReference));
TranscriptCacheData transcriptData;
using (var transcriptCacheReader = new TranscriptCacheReader(FileUtilities.GetReadStream(CacheConstants.TranscriptPath(_transcriptCachePrefix))))
{
transcriptData = transcriptCacheReader.Read(referenceProvider.RefIndexToChromosome);
}
var spliceIntervals = SpliceUtilities.GetSpliceIntervals(referenceProvider, transcriptData);
var nirEnstToGeneSymbols = SpliceUtilities.GetEnstToGeneSymbols(referenceProvider, transcriptData);
Dictionary <string, string> spliceAiEnstToGeneSymbols;
using (var reader = new StreamReader(GZipUtilities.GetAppropriateReadStream(_geneInfoFile)))
{
spliceAiEnstToGeneSymbols = SpliceUtilities.GetSpliceAiGeneSymbols(reader);
}
var spliceAiToNirvanaGeneSymbols =
SpliceUtilities.GetSymbolMapping(spliceAiEnstToGeneSymbols, nirEnstToGeneSymbols);
Console.WriteLine($"Mapped {spliceAiToNirvanaGeneSymbols.Count} spliceAI gene symbols to Nirvana gene symbols (out of {spliceAiEnstToGeneSymbols.Count})");
var version = DataSourceVersionReader.GetSourceVersion(_inputFile + ".version");
string outFileName = $"{version.Name}_{version.Version}";
using (var spliceAiParser = new SpliceAiParser(
GZipUtilities.GetAppropriateReadStream(_inputFile),
referenceProvider, spliceIntervals, spliceAiToNirvanaGeneSymbols))
using (var nsaStream = FileUtilities.GetCreateStream(Path.Combine(_outputDirectory, outFileName + SaCommon.SaFileSuffix)))
using (var indexStream = FileUtilities.GetCreateStream(Path.Combine(_outputDirectory, outFileName + SaCommon.SaFileSuffix + SaCommon.IndexSufix)))
using (var nsaWriter = new NsaWriter(nsaStream, indexStream, version, referenceProvider, SaCommon.SpliceAiTag, true, true, SaCommon.SchemaVersion, false))
{
nsaWriter.Write(spliceAiParser.GetItems());
}
Console.WriteLine($"Total number of entries from Splice AI: {SpliceAiParser.Count}");
return(ExitCodes.Success);
}
private static ExitCodes ProgramExecution()
{
var referenceProvider = new ReferenceSequenceProvider(FileUtilities.GetReadStream(_compressedReference));
TranscriptCacheData transcriptData;
using (var transcriptCacheReader = new TranscriptCacheReader(FileUtilities.GetReadStream(CacheConstants.TranscriptPath(_transcriptCachePrefix))))
{
transcriptData = transcriptCacheReader.Read(referenceProvider.RefIndexToChromosome);
}
var spliceIntervals = SpliceUtilities.GetSpliceIntervals(referenceProvider, transcriptData);
var nirvanaGeneForest = SpliceUtilities.GetGeneForest(transcriptData);
Console.WriteLine("Loaded transcripts and generated splice intervals.");
Dictionary <string, List <string> > geneSymbolSynonyms;
using (var geneInfoParser = new GeneInfoParser(GZipUtilities.GetAppropriateStreamReader(_geneInfoFile)))
{
geneSymbolSynonyms = geneInfoParser.GetGeneSymbolSynonyms();
}
Console.WriteLine("Loaded gene symbol synonyms");
var version = DataSourceVersionReader.GetSourceVersion(_inputFile + ".version");
string outFileName = $"{version.Name}_{version.Version}";
using (var spliceAiParser = new SpliceAiParser(
GZipUtilities.GetAppropriateReadStream(_inputFile),
referenceProvider, spliceIntervals, nirvanaGeneForest, geneSymbolSynonyms))
using (var nsaStream = FileUtilities.GetCreateStream(Path.Combine(_outputDirectory, outFileName + SaCommon.SaFileSuffix)))
using (var indexStream = FileUtilities.GetCreateStream(Path.Combine(_outputDirectory, outFileName + SaCommon.SaFileSuffix + SaCommon.IndexSufix)))
{
var nsaWriter = new NsaWriter(new ExtendedBinaryWriter(nsaStream), new ExtendedBinaryWriter(indexStream), version, referenceProvider, SaCommon.SpliceAiTag, true, true, SaCommon.SchemaVersion, false);
nsaWriter.Write(spliceAiParser.GetItems());
}
Console.WriteLine($"Total number of entries from Splice AI: {SpliceAiParser.Count}");
return(ExitCodes.Success);
}
private static ExitCodes ProgramExecution()
{
Dictionary <string, string> geneIdToSymbols;
using (var cacheStream = FileUtilities.GetReadStream(CacheConstants.TranscriptPath(_cachePrefix)))
using (var transcriptCacheReader = new TranscriptCacheReader(cacheStream))
using (var refProvider = new ReferenceSequenceProvider(FileUtilities.GetReadStream(_referenceSequncePath)))
{
geneIdToSymbols = LoadGenesFromCache(refProvider, transcriptCacheReader);
Console.WriteLine($"Loaded {geneIdToSymbols.Count} gene symbols from cache.");
}
var version = DataSourceVersionReader.GetSourceVersion(_inputFile + ".version");
var outFileName = $"{version.Name}_{version.Version}";
using (var gnomadGeneParser = new GnomadGeneParser(GZipUtilities.GetAppropriateStreamReader(_inputFile), geneIdToSymbols))
using (var stream = FileUtilities.GetCreateStream(Path.Combine(_outputDirectory, outFileName + SaCommon.NgaFileSuffix)))
using (var ngaWriter = new NgaWriter(stream, version, SaCommon.GnomadGeneScoreTag, SaCommon.SchemaVersion, false))
{
ngaWriter.Write(gnomadGeneParser.GetItems());
}
return(ExitCodes.Success);
}
private static Dictionary <string, string> LoadGenesFromCache(ReferenceSequenceProvider refProvider, TranscriptCacheReader cacheReader)
{
var transcriptData = cacheReader.Read(refProvider.RefIndexToChromosome);
var geneIdToSymbols = new Dictionary <string, string>(transcriptData.Genes.Length);
foreach (var gene in transcriptData.Genes)
{
var geneId = gene.EnsemblId.WithoutVersion;
//if(geneId == "ENSG00000272962" || geneId == "ENSG00000198743")
// Console.WriteLine("bug");
if (string.IsNullOrEmpty(geneId))
{
continue;
}
if (!geneIdToSymbols.TryAdd(geneId, gene.Symbol))
{
if (geneIdToSymbols[geneId] != gene.Symbol)
{
throw new DataMisalignedException($"Multiple symbols found for {geneId}");
}
}
}
return(geneIdToSymbols);
}
public static TranscriptCacheData GetTranscriptData(IDictionary <ushort, IChromosome> refIndexToChromosome, string transcriptCachePrefix)
{
using var transcriptCacheReader = new TranscriptCacheReader(
FileUtilities.GetReadStream(CacheConstants.TranscriptPath(transcriptCachePrefix)));
return(transcriptCacheReader.Read(refIndexToChromosome));
}